ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.622A>G (p.Lys208Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004091205 SCV003551776 uncertain significance not specified 2022-07-05 criteria provided, single submitter clinical testing The c.622A>G (p.K208E) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a A to G substitution at nucleotide position 622, causing the lysine (K) at amino acid position 208 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315467 SCV004015251 uncertain significance Pancreatic cancer, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces glutamate with lysine at codon 208 of the PALLD protein (p.Glu208Lys). This variant is not present in population databases (ExAC). It has not been reported in the literature in individuals with a PALLD-related disease as far as we know. Algorithms developed to predict the effect of missense changes on protein structure and function agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly damaging"). There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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